Canonical Allele Identifier: CA2184878384

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68218539G= , CM000677.2:g.68218539G=	GRCh38
NC_000015.9:g.68510877G= , CM000677.1:g.68510877G=	GRCh37
NC_000015.8:g.66297931G=	NCBI36
NG_008764.2:g.43673C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.195C= MANE Select	ENSP00000249806.5:p.Ala65=
ENST00000562767.2:c.83+10963C=	ENSP00000456336.1:n.83+10963C=
ENST00000563917.2:n.41-4151C=
ENST00000565471.6:c.84-8780C=	ENSP00000457384.1:n.84-8780C=
ENST00000569336.2:n.104C=
ENST00000635747.1:c.*98C=	ENSP00000490627.1:n.*98C=
ENST00000636020.1:n.327C=
ENST00000636212.1:c.195C=	ENSP00000489851.1:p.Ala65=
ENST00000636314.1:c.84-4151C=	ENSP00000490295.1:n.84-4151C=
ENST00000637054.1:c.195C=	ENSP00000490807.1:p.Ala65=
ENST00000637223.1:c.*98C=	ENSP00000490010.1:n.*98C=
ENST00000637329.1:c.106C=
ENST00000637450.1:c.84-4151C=	ENSP00000490204.1:n.84-4151C=
ENST00000637494.1:c.195C=	ENSP00000490057.1:p.Ala65=
ENST00000637667.1:c.195C=	ENSP00000489843.1:p.Ala65=
ENST00000637823.1:c.121C=
ENST00000637888.1:c.195C=	ENSP00000490546.1:p.Ala65=
ENST00000638076.1:c.195C=	ENSP00000490373.1:p.Ala65=
ENST00000638144.1:n.31-4151C=
ENST00000646164.1:c.35C=
ENST00000249806.9:c.195C=	ENSP00000249806.5:p.Ala65=
ENST00000538696.5:c.291C=	ENSP00000445770.1:p.Ala97=
ENST00000562767.1:c.83+10963C=	ENSP00000456336.1:n.83+10963C=
ENST00000564752.1:c.195C=	ENSP00000457822.1:p.Ala65=
ENST00000564846.1:n.627C=
ENST00000565471.5:c.84-8780C=	ENSP00000457384.1:n.84-8780C=
ENST00000566347.5:c.195C=	ENSP00000457783.1:p.Ala65=
ENST00000567060.5:c.195C=	ENSP00000454818.1:p.Ala65=
ENST00000569336.1:n.281C=
NM_017882.2:c.195C=	NP_060352.1:p.Ala65=
XR_931861.1:n.298C=
NM_017882.3:c.195C= MANE Select	NP_060352.1:p.Ala65=